Incidental Mutation 'R7149:Rnmt'
ID 554035
Institutional Source Beutler Lab
Gene Symbol Rnmt
Ensembl Gene ENSMUSG00000009535
Gene Name RNA (guanine-7-) methyltransferase
Synonyms 2610002P10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7149 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 68433426-68457923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68452222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 420 (S420P)
Ref Sequence ENSEMBL: ENSMUSP00000009679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009679] [ENSMUST00000025427]
AlphaFold Q9D0L8
Predicted Effect probably damaging
Transcript: ENSMUST00000009679
AA Change: S420P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009679
Gene: ENSMUSG00000009535
AA Change: S420P

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 464 7.5e-128 PFAM
Pfam:Methyltransf_31 184 352 1.2e-8 PFAM
Pfam:Methyltransf_11 191 305 3.8e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000025427
AA Change: S365P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025427
Gene: ENSMUSG00000009535
AA Change: S365P

DomainStartEndE-ValueType
Pfam:Pox_MCEL 125 317 2.8e-79 PFAM
Pfam:Methyltransf_23 163 349 8.2e-10 PFAM
Pfam:Methyltransf_31 184 375 4.3e-9 PFAM
Pfam:Methyltransf_18 186 308 1.4e-7 PFAM
Pfam:Methyltransf_11 191 305 5.1e-9 PFAM
Pfam:Pox_MCEL 313 409 2.1e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,375,451 (GRCm39) F790V probably damaging Het
Atf4 AAGCGGGCTGAGC AAGC 15: 80,141,500 (GRCm39) probably benign Het
Brd8 C T 18: 34,737,650 (GRCm39) probably null Het
Bsn A T 9: 107,993,520 (GRCm39) L744* probably null Het
Capn9 A G 8: 125,332,448 (GRCm39) D429G probably benign Het
CK137956 A T 4: 127,864,626 (GRCm39) M1K probably null Het
Cnot6 G A 11: 49,570,970 (GRCm39) P341S probably benign Het
Cracdl G A 1: 37,651,352 (GRCm39) Q1172* probably null Het
Dld T G 12: 31,385,589 (GRCm39) I251L probably benign Het
Dlg5 T C 14: 24,240,492 (GRCm39) K253R probably benign Het
Dnmt3a C T 12: 3,952,397 (GRCm39) P696L probably damaging Het
Dph1 T C 11: 75,070,001 (GRCm39) K409E probably benign Het
Dsg2 T C 18: 20,712,511 (GRCm39) S172P probably damaging Het
Gm1979 T C 5: 26,206,945 (GRCm39) N136S probably benign Het
Gm2663 A T 6: 40,974,891 (GRCm39) L60Q probably damaging Het
Hdac10 A G 15: 89,011,652 (GRCm39) F144S probably damaging Het
Ifi203 T C 1: 173,756,494 (GRCm39) T430A unknown Het
Itgb2l T C 16: 96,234,759 (GRCm39) D244G probably damaging Het
Klk1b9 A T 7: 43,628,841 (GRCm39) Y115F probably benign Het
Llcfc1 C A 6: 41,662,251 (GRCm39) A85E possibly damaging Het
Lrp1b C T 2: 40,527,872 (GRCm39) V4330M Het
Map3k13 A G 16: 21,744,187 (GRCm39) E811G probably benign Het
Myl6b A G 10: 128,333,068 (GRCm39) probably null Het
Myo15a G A 11: 60,400,836 (GRCm39) A2997T possibly damaging Het
Nalcn T C 14: 123,837,277 (GRCm39) D29G probably benign Het
Nepro T A 16: 44,550,078 (GRCm39) probably null Het
Nlrp1b T A 11: 71,072,482 (GRCm39) R454* probably null Het
Nlrp4a T C 7: 26,149,863 (GRCm39) V490A probably benign Het
Or1e1f G A 11: 73,856,257 (GRCm39) M274I probably benign Het
Or2l13 T C 16: 19,306,260 (GRCm39) V224A probably damaging Het
Pde8b T G 13: 95,223,349 (GRCm39) M197L probably benign Het
Phldb2 T A 16: 45,571,895 (GRCm39) K1166* probably null Het
Plekhm1 A G 11: 103,285,742 (GRCm39) I231T probably damaging Het
Ppp6r2 T C 15: 89,146,599 (GRCm39) I199T probably damaging Het
Ptch1 G T 13: 63,659,550 (GRCm39) H1368N probably benign Het
Ptprj T A 2: 90,274,790 (GRCm39) T1191S possibly damaging Het
Rapgef1 T C 2: 29,610,712 (GRCm39) S748P probably damaging Het
Rigi T C 4: 40,222,079 (GRCm39) D445G possibly damaging Het
Sgms2 A G 3: 131,129,908 (GRCm39) F160S possibly damaging Het
Sim1 G T 10: 50,785,636 (GRCm39) R235L probably damaging Het
Slco1a7 A G 6: 141,690,178 (GRCm39) S192P probably damaging Het
Smarcad1 T A 6: 65,029,716 (GRCm39) D101E probably benign Het
Smarcc2 G A 10: 128,318,598 (GRCm39) V627M probably damaging Het
Supt20 G A 3: 54,635,832 (GRCm39) R241H unknown Het
Tagln2 T A 1: 172,333,386 (GRCm39) I80N probably damaging Het
Tmod2 G A 9: 75,489,167 (GRCm39) T226I possibly damaging Het
Vmn2r80 A T 10: 79,030,654 (GRCm39) I827F probably benign Het
Vmn2r96 T A 17: 18,817,989 (GRCm39) M714K possibly damaging Het
Vps8 C A 16: 21,278,526 (GRCm39) D261E probably damaging Het
Yeats2 C A 16: 19,972,939 (GRCm39) A31E probably damaging Het
Zfp451 C T 1: 33,816,405 (GRCm39) R515Q probably damaging Het
Zfp553 A G 7: 126,835,605 (GRCm39) S387G possibly damaging Het
Other mutations in Rnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Rnmt APN 18 68,447,152 (GRCm39) nonsense probably null
acre UTSW 18 68,447,105 (GRCm39) missense probably damaging 1.00
talenti UTSW 18 68,452,285 (GRCm39) missense probably damaging 0.98
IGL03098:Rnmt UTSW 18 68,439,073 (GRCm39) missense probably damaging 0.98
R0137:Rnmt UTSW 18 68,446,771 (GRCm39) missense probably benign 0.00
R0712:Rnmt UTSW 18 68,440,859 (GRCm39) critical splice donor site probably null
R1493:Rnmt UTSW 18 68,446,778 (GRCm39) missense probably damaging 1.00
R1541:Rnmt UTSW 18 68,440,853 (GRCm39) missense probably damaging 1.00
R1606:Rnmt UTSW 18 68,444,724 (GRCm39) missense possibly damaging 0.83
R2224:Rnmt UTSW 18 68,438,854 (GRCm39) start gained probably benign
R3114:Rnmt UTSW 18 68,447,079 (GRCm39) missense probably benign 0.13
R3115:Rnmt UTSW 18 68,447,079 (GRCm39) missense probably benign 0.13
R4424:Rnmt UTSW 18 68,444,742 (GRCm39) missense probably null 0.07
R4705:Rnmt UTSW 18 68,447,196 (GRCm39) missense probably damaging 1.00
R4722:Rnmt UTSW 18 68,438,952 (GRCm39) missense probably damaging 0.98
R4732:Rnmt UTSW 18 68,451,031 (GRCm39) intron probably benign
R5173:Rnmt UTSW 18 68,454,430 (GRCm39) utr 3 prime probably benign
R5523:Rnmt UTSW 18 68,446,773 (GRCm39) missense probably benign
R5579:Rnmt UTSW 18 68,439,186 (GRCm39) missense possibly damaging 0.93
R5966:Rnmt UTSW 18 68,444,689 (GRCm39) missense probably benign 0.16
R6322:Rnmt UTSW 18 68,452,285 (GRCm39) missense probably damaging 0.98
R7529:Rnmt UTSW 18 68,444,726 (GRCm39) missense probably benign 0.41
R7620:Rnmt UTSW 18 68,447,105 (GRCm39) missense probably damaging 1.00
R8071:Rnmt UTSW 18 68,440,723 (GRCm39) missense probably benign 0.03
R9093:Rnmt UTSW 18 68,451,146 (GRCm39) missense probably benign 0.03
R9436:Rnmt UTSW 18 68,442,410 (GRCm39) missense probably damaging 0.97
Z1088:Rnmt UTSW 18 68,440,745 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TTGTCCCAGTGAAGCAGTG -3'
(R):5'- CTTGCAATCTAGCGAGCACAG -3'

Sequencing Primer
(F):5'- AGATGGCCTTCAGACTTGCAG -3'
(R):5'- TGCAATCTAGCGAGCACAGATACTG -3'
Posted On 2019-05-15